A5026473698- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Biomedical Text Mining and Ontologies
- Cancer-related gene regulation
- Histone Deacetylase Inhibitors Research
- CRISPR and Genetic Engineering
- Immunodeficiency and Autoimmune Disorders
- Artificial Intelligence in Healthcare and Education
- Big Data and Business Intelligence
- Scientific Computing and Data Management
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2023-2025
Cold Spring Harbor Laboratory
2010
Abstract Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care research. This work aims to harmonise the Common Data Set by European Rare Disease Registry Infrastructure, Health Level 7 Fast Healthcare Interoperability Base Resources, Global Alliance for Genomics Phenopacket Schema into a novel disease common model (RD-CDM), laying foundation developing international RD-CDMs aligned with these standards. We...
The influence of histone amino-terminal covalent modifications on gene regulation has drawn intense research efforts in recent years. It is now clear that activating and inactivating have a key role determining the gene-expression profile an individual cell or lineage. Thus, differences these pivotal maintaining fate during development. interplay methyltransferases (HMTs) demethylases confers plasticity necessary for changes differentiation following environmental cues. H3 lysine 27 (H3K27)...
Since 72% of rare diseases are genetic in origin and mostly paediatrics, newborn screening represents a diagnostic "window opportunity". Therefore, many gNBS initiatives started different European countries. Screen4Care is research project, which resulted joint effort between the Union Commission Federation Pharmaceutical Industries Associations. It focuses on artificial intelligence-based tools will be applied to large population about 25.000 infants. The neonatal strategy based targeted...
Rare neuromuscular diseases (NMDs) encompass various disorders of the nervous system and skeletal muscles, present intricate challenges in diagnosis, treatment, research due to their low prevalence often diverse multisystemic manifestations. Leveraging collected patient data for secondary use analysis holds promise advancing medical understanding this field. However, a certain level quality is prerequisite methods that can be used analyze data. The heterogeneous nature NMDs poses significant...
M.R. Hübner⇓ and D.L. Spector Cold Spring Harbor Laboratory, Harbor, New York 11724 Correspondence: huebner{at}cshl.edu; spector{at}cshl.edu
This paper explores the critical role of Interoperability (IOP) in integration Artificial Intelligence (AI) for clinical applications. As AI gains prominence medical analytics, its application practice faces challenges due to lack standardization sector. IOP, ability systems exchange information seamlessly, emerges as a fundamental solution. Our discusses indispensable nature IOP throughout Data Life Cycle, demonstrating how interoperable data can facilitate The benefits encompass...